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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, Seeley WW, Miller BL, Bigio E, Mesulam MM, Bogyo MS, Mackenzie IR, Staropoli JF, Cotman SL, Huang EJ, Gan L, Green AJ. Ward ME, et al. Sci Transl Med. 2017 Apr 12;9(385):eaah5642. doi: 10.1126/scitranslmed.aah5642. Sci Transl Med. 2017. PMID: 28404863 Free PMC article.
Active DNA demethylation promotes cell fate specification and the DNA damage response.
Wang D, Wu W, Callen E, Pavani R, Zolnerowich N, Kodali S, Zong D, Wong N, Noriega S, Nathan WJ, Matos-Rodrigues G, Chari R, Kruhlak MJ, Livak F, Ward M, Caldecott K, Di Stefano B, Nussenzweig A. Wang D, et al. Science. 2022 Dec 2;378(6623):983-989. doi: 10.1126/science.add9838. Epub 2022 Dec 1. Science. 2022. PMID: 36454826 Free PMC article.
327 results